HACD1 (3-hydroxyacyl-CoA dehydratase 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9200
Gene name 3-hydroxyacyl-CoA dehydratase 1
Gene symbol HACD1
Synonyms (NCBI Gene)
CAPCMYO11CMYP11MYONPPTPLA
Chromosome 10
Chromosome location 10p12.33
Summary The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a d
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 38422897
GO:0005783 Component Endoplasmic reticulum IDA 18554506
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610467 9639 ENSG00000165996
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
B0YJ81
Protein name Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 (EC 4.2.1.134) (3-hydroxyacyl-CoA dehydratase 1) (HACD1) (Cementum-attachment protein) (CAP) (Protein-tyrosine phosphatase-like member A)
Protein function [Isoform 1]: Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04387 PTPLA 119 → 280 Protein tyrosine phosphatase-like protein, PTPLA Family
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is highly expressed in the myocardium, and to a lesser extent in skeletal and smooth muscular tissues including those from stomach, jejunum, and bladder. Also detected in gingival fibroblasts, periodontal ligament cells, oste
Sequence 
MGRLTEAAAAGSGSRAAGWAGSPPTLLPLSPTSPRCAATMASSDEDGTNGGASEAGEDRE
APGERRRLGVLATAWLTFYDIAMTAGWLVLAIAMVRFYMEKGTHRGLYKSIQKTLKFFQT
FALLEIVHCLIGIVPTSVIVTGVQVSSRIFMVWLITHSIKPIQNEESVVLFLVAWTVTEI
TRYSFYTFSLLDHLPYFIKWARYNFFIILYPVGVAGELLTIYAALPHVKKTGMFSIRLPN
KYNVSFDYYYFLLITMASYIPLFPQLYFHMLRQRRKVLHGEVIVEKDD
Sequence length 288
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Fatty acid elongation
Biosynthesis of unsaturated fatty acids
Metabolic pathways
Fatty acid metabolism 		  Synthesis of very long-chain fatty acyl-CoAs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital myopathy 11 Pathogenic; Likely pathogenic rs1426156076, rs606231257, rs2493868037, rs2493841471, rs2493869193 RCV002271315
RCV002269927
RCV002271331
RCV002271332
RCV004586504
Show/Hide Unknown Diseases (13)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs76819191, rs11254691 RCV005918589
RCV005925187
Cervical cancer Benign rs76819191 RCV005918591
Cholangiocarcinoma Benign rs76004443 RCV005868228
Clear cell carcinoma of kidney Benign rs76819191 RCV005918592
Show/Hide Text Mining Associations (6)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 19241460
Cementoma Associate 22067203
Myopathies Structural Congenital Associate 36823680
Myotonia Congenita Associate 23933735, 36823680
Qazi Markouizos syndrome Associate 36823680
Sphingolipidoses Associate 36313783